Blastik Plazmasitoid Dendritik Hücreli Neoplazi
Özet
Blastik plazmasitoid dendritik hücreli neoplazi (BPDHN), cilt, kemik iliği ve periferik kan tutulumu ile karakterize, oldukça agresif seyirli ve nadir görülen bir hematolojik malignitedir. Genellikle 60-70 yaş aralığındaki erkek hastaları etkileyen bu neoplazi, Dünya Sağlık Örgütü sınıflamalarında myeloid/dendritik ve histiyositik neoplaziler kategorisinde yer almaktadır. Hastalığın patogenezinde TCF-4, BCL11A ve IRF-8 gibi transkripsiyon faktörleri ile anti-apoptotik bcl-2 proteininin aşırı ekspresyonu rol oynamaktadır. Tanısal olarak, tipik B, T ve myeloid belirteçlerin yokluğunda CD4 ve CD56 pozitifliğine ek olarak, CD123 ve TCL-1 gibi plazmasitoid dendritik hücre markerlarının gösterilmesi esastır. Klinik olarak hastaların büyük bölümü mor-mavi renkli nodüler cilt lezyonları, lenfadenopati ve sitopeni ile başvurmakta, lösemik prezentasyon ve santral sinir sistemi tutulumu da gözlenebilmektedir. Tedavi yaklaşımı oldukça heterojen olup geçmişte ALL ve AML benzeri kemoterapi rejimleri tercih edilirken, günümüzde CD123'ü hedefleyen Tagraxofusp gibi yeni ajanlar ve ilk tam remisyonda uygulanan allojeneik kök hücre nakli, kalıcı yanıt ve uzun dönem sağkalım sağlamada en etkili terapötik modaliteler olarak öne çıkmaktadır.
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and highly aggressive hematologic malignancy characterized by skin, bone marrow, and peripheral blood involvement. Primarily affecting males in their sixth to seventh decades of life, this neoplasm is classified under myeloid/dendritic and histiocytic neoplasms in World Health Organization updates. The pathogenesis of the disease involves transcription factors such as TCF-4, BCL11A, and IRF-8, alongside the overexpression of the anti-apoptotic bcl-2 protein. Diagnostically, the presence of CD4 and CD56 positivity, combined with plasmacytoid dendritic cell markers like CD123 and TCL-1, is essential in the absence of typical B, T, and myelomonocytic lineage markers. Clinically, the majority of patients present with bluish-purple nodular skin lesions, lymphadenopathy, and cytopenias, while leukemic presentation and central nervous system involvement may also occur. Therapeutic approaches remain heterogeneous; while conventional ALL or AML-like chemotherapy regimens were historically preferred, targeted therapies such as the CD123 inhibitor Tagraxofusp, followed by consolidation with allogeneic hematopoietic stem cell transplantation during the first complete remission, have emerged as the most effective modalities for achieving durable responses and prolonged survival.
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